| Individual ID | 22821709.01 |
|---|---|
| Pubmed ID | 22821709 |
| Whose mosaic mutation | Mother |
| Phenotypic Category | 1 |
| Age | -1.0 ~ -1.0 |
| Number of affected children | 2 ( female: 1; ) |
| Disease | Congenital central hypoventilation syndrome(view all the variants in this disease) |
| OMIM ID | 209880 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 107 | 8929 | PHOX2B | 4 | 41750567 | 41750567 | Congenital central hypoventilation syndrome | ABI3100 |